Probable metabolic disorder I have a 2 1/2-year-old son who currently doesn't have a diagnosis. When he was born, he was sent to a children's hospital because of projectile vomiting. After about five days, he could keep down 2 oz of formula per feeding and he was discharged. When he was about 6 months-old, he had obvious delays in development. An MRI showed global damage in the white matter of the brain. The developmental pediatrician gave him a diagnosis of cerebral palsy secondary to probable mitochondrial encephalopathy.
My son is very hypotonic (has low muscle tone). He currently functions at the level of a 6 month-old. He cannot walk, crawl, or talk. He can sit, but he cannot stop himself from falling over. He also displays some characteristics of autism such as obsessive mouthing, but he loves to be held and cuddled. He also has severe constipation problems, reflux, and cortical visual impairment.
The doctors now think he has a metabolic disorder. They recently repeated a set of tests on his blood and urine. (These tests were done at 6 months and all were normal). They also repeated the MRI and EEG. The EEG showed constant seizure activity, but his repeat MRI is now normal. It showed a decreased myelination but not enough to be abnormal. (Myelin is a white, fatty sheath that surrounds nerve fibers and helps transmission of messages along the nerve.) The blood work was normal, except, that his lactic acid (a waste product of cellular metabolism) was high at 3.8. At one time, we thought he might have fragile x. We have had a chromosome workup done and everything was normal on a FISH (fluorescent in situ hybridation) test. (The FISH test is used to diagnose chromosome abnormalities). We are planning to see a metabolic specialist, but I have a feeling we will be left without answers again.
We are also having trouble finding a seizure medication to treat the infantile spasms that doesn't make the mitochondrial disease worse. We are looking for any ideas or suggestions about seizure medications and further testing that would help diagnose our son.
H.H., via e-mail
Dr. Feudtner: Ask your Physician about a muscle biopsy to analyze the mitochondria
Autism and toileting issues
I am the parent of a 9 year-old boy who has autism and severe cognitive deficits. We have been trying to teach him to use the toilet for about five years without success. Unfortunately, the situation has gotten worse--he has now taken to touching his feces and rectal area. This behavior has become a compulsion. It is a very difficult situation. I have been searching for behavior interventions but have not been able to find anything to help us deal with this behavior. Any and all referrals would be much appreciated.
D.F., via e-mail
Juvenile rheumatoid arthritis and growth hormones
My son was diagnosed with severe juvenile rheumatoid arthritis at the age of 5. He is now 15 and has not grown at all. He weighs 45 lbs and is 42" tall. The doctors say that this is the result of the disease, the medication (prednisone), and his lack of appetite. They also say that his growth plates may have been damaged by the arthritis. (Growth plates are the actively growing sections of the bones.)
We are told that his disease is under control, and he is only taking 4 mg of prednisone a day. Along with his regular meals we supplement his diet with G-tube feedings of a nutritional supplement. We tried growth hormones, but they made him sick and did not work. We are looking for other parents who have had experience with prednisone and its effects on growth. Any suggestions to help promote growth would be appreciated.
T.D., via e-mail
Dr. Feudtner: Ask your doctor whether steroid-sparing strategies (such as using one of the so-called "disease-remitting" agents, or tiny doses of methotrexate) would help your son. This may enable you to get the steroid dose down to every other day or less. The prospects for catch up growth, though, might be quite limited.